Canonical Allele Identifier: CA3774364

Gene: LHFPL5

Linked Data

• dbSNP Id: rs748539475
• ExAC: 6:35773691 G / C
• gnomAD v2: 6-35773691-G-C
• gnomAD v4: 6-35805914-G-C
• MyVariant Identifiers: chr6:g.35773691G>C (hg19) ; chr6:g.35805914G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805914G>C , CM000668.2:g.35805914G>C	GRCh38
NC_000006.11:g.35773691G>C , CM000668.1:g.35773691G>C	GRCh37
NC_000006.10:g.35881669G>C	NCBI36
NG_012184.1:g.5621G>C
NG_012184.2:g.5621G>C
NG_012184.3:g.13709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.244G>C MANE Select	ENSP00000353346.1:p.Gly82Arg
ENST00000651132.1:c.244G>C	ENSP00000498322.1:p.Gly82Arg
ENST00000651676.1:c.244G>C	ENSP00000498699.1:p.Gly82Arg
ENST00000651994.1:c.244G>C	ENSP00000498310.1:p.Gly82Arg
ENST00000652718.1:c.76G>C	ENSP00000498866.1:p.Gly26Arg
ENST00000360215.2:c.244G>C	ENSP00000353346.1:p.Gly82Arg
NM_182548.3:c.244G>C	NP_872354.1:p.Gly82Arg
XM_011514403.1:c.244G>C	XP_011512705.1:p.Gly82Arg
NM_182548.4:c.244G>C MANE Select	NP_872354.1:p.Gly82Arg